Waardenburg syndrome type 4A

Definition

A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB.

Also known as EDNRB Waardenburg syndrome, Waardenburg syndrome caused by mutation in EDNRB, Waardenburg syndrome type 4A, WS4A — per MONDO

Also identified as

• DOID 0110953 per MONDO
• OMIM 277580 per MONDO
• UMLS C1848519 per MONDO